A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986689



Internal ID12632263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:6759652..6834652hg38UCSC Ensembl
Innerchr18:6759651..6834651hg19UCSC Ensembl
Innerchr18:6749651..6824651hg18UCSC Ensembl
Innerchr18:6749651..6824651hg17UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3875001
hg1975001
hg1875001
hg1775001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34611
Supporting Variants
SamplesNA12145
Known GenesARHGAP28
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986689
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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